title: Adult neuronal ceroid lipofuscinosis with clinical findings consistent with a butterfly glioma. Case report.
abstract: The authors report a case of neuronal ceroid lipofuscinosis (Kufs' disease) confirmed by stereotactically obtained brain biopsy findings and initially diagnosed as a butterfly glioma. The presenting symptoms in the 64-year-old patient were mental alterations with progressive dementia, followed by muscular atrophy and myoclonia with distal preponderance. The mild initial disturbances of coordination increased, and the patient developed a markedly ataxic gait. Computerized tomography (CT) scanning and magnetic resonance imaging revealed generalized cerebral atrophy and a bifrontal space-occupying lesion involving the callosum. The original "clearcut" diagnosis of glioblastoma multiforme, based on CT scans, was unexpectedly disproved by examination of stereotactically obtained brain biopsy specimens, which revealed a neuronal ceroid lipofuscinosis (Kufs' disease). To the authors' knowledge, this is the first report of a case presenting with both diffuse brain atrophy and localized accumulation of neuronal lipofuscin, mimicking a mass lesion on radiological studies.
authors.affiliation: Department of Neurosurgery and Institute of Neuropathology, Benjamin Franklin Medical Center, Free University of Berlin, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Hammersen
authors.forename: M
authors.initials: M
authors.lastname: Brock
authors.forename: J
authors.initials: J
authors.lastname: Cervós-Navarro
mesh_terms: D001284:Atrophy; D001706:Biopsy; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D001932:Brain Neoplasms / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D005909:Glioblastoma / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed